The underlying aetiology and pathogenesis of congenital contractures, particularly arthrogryposis and the mechanism of the mutations remains an active area of investigation.
22.
In March 2006, Stevenson et al . published strict diagnostic criteria for distal arthrogryposis type 2A ( DA2A ) or Freeman Sheldon syndrome.
23.
Mutations in this gene have been associated with two congenital contracture ( arthrogryposis ) syndromes, Freeman-Sheldon syndrome and Sheldon-Hall syndrome.
24.
These included two or more features of distal arthrogryposis : microstomia, whistling-face, nasolabial creases, and'H-shaped'chin dimple.
25.
Martina's particular type of arthrogryposis _ meaning " stiff joints " _ occurs in one out of perhaps 50, 000 births, says Burke.
26.
Joshua suffers from a birth defect affecting the bones called arthrogryposis, Menard said, adding that the braces were paid for only after a protracted fight with Medicaid officials.
27.
Services are provided for people with physical conditions ranging from the very rare to the more familiar, such as cerebral palsy, spina bifida, muscular dystrophy and arthrogryposis.
28.
Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively.
29.
Overton has arthrogryposis multiplex congenita, a medical condition which " causes muscle weakness and a tendency for bones to break easily . " It also results in joints that are immobile.
30.
Born with arthrogryposis, a rare occurrence where missing muscle mass and bone deformities limit range of motion, Samantha wasn't able to bring a spoon to her mouth without spilling.
